Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Slc44a2'

577027

Institutional Source

Beutler Lab

Gene Symbol

Slc44a2

Ensembl Gene

ENSMUSG00000057193

Gene Name

solute carrier family 44, member 2

Synonyms

CTL2, 1110028E10Rik

MMRRC Submission

045518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21232015-21266324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21256819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 367 (T367I)

Ref Sequence

ENSEMBL: ENSMUSP00000034697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034697] [ENSMUST00000215574] [ENSMUST00000217461]

AlphaFold

Q8BY89

Predicted Effect

probably damaging
Transcript: ENSMUST00000034697
AA Change: T367I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: T367I

Domain	Start	End	E-Value	Type
Blast:CLECT	4	37	8e-8	BLAST
transmembrane domain	231	253	N/A	INTRINSIC
transmembrane domain	255	277	N/A	INTRINSIC
Pfam:Choline_transpo	319	678	3.9e-119	PFAM
low complexity region	691	702	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213535

Predicted Effect

probably benign
Transcript: ENSMUST00000214268

Predicted Effect

probably damaging
Transcript: ENSMUST00000215574
AA Change: T365I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217461
AA Change: T365I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6897

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,946,919 (GRCm39)	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,645,509 (GRCm39)	S465P	possibly damaging	Het
Acap3	T	C	4: 155,990,078 (GRCm39)	F753L	probably damaging	Het
Adam9	A	T	8: 25,457,223 (GRCm39)	V635E	probably damaging	Het
Adgre4	T	A	17: 56,159,340 (GRCm39)	V675E	probably benign	Het
Anapc4	T	C	5: 53,014,543 (GRCm39)	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,561,268 (GRCm39)	K325N	possibly damaging	Het
Aox1	T	C	1: 58,121,172 (GRCm39)	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,563,739 (GRCm39)	T237A	probably benign	Het
Asah1	T	C	8: 41,796,602 (GRCm39)	D331G	possibly damaging	Het
Atp5f1a	G	A	18: 77,866,820 (GRCm39)	R231H	probably benign	Het
Bod1l	G	A	5: 41,964,522 (GRCm39)	P2694L	probably damaging	Het
Bst1	T	C	5: 43,979,084 (GRCm39)	S143P	probably benign	Het
Cacna1b	A	C	2: 24,497,513 (GRCm39)	S2132A	probably benign	Het
Caps2	G	T	10: 112,044,259 (GRCm39)	R486L	probably damaging	Het
Ccdc168	A	G	1: 44,097,868 (GRCm39)	S1077P	possibly damaging	Het
Cd68	T	C	11: 69,556,754 (GRCm39)	T18A	probably benign	Het
Cdk8	T	C	5: 146,229,579 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,932,072 (GRCm39)	I127N	unknown	Het
Dsc3	T	C	18: 20,114,213 (GRCm39)	D347G	probably damaging	Het
Dyrk2	T	C	10: 118,695,786 (GRCm39)	S491G	probably damaging	Het
Edem1	T	A	6: 108,828,266 (GRCm39)	Y530*	probably null	Het
Enc1	A	T	13: 97,383,248 (GRCm39)	H586L	probably benign	Het
Ephb6	T	G	6: 41,594,981 (GRCm39)		probably null	Het
Etv5	G	T	16: 22,254,809 (GRCm39)	Q48K	probably damaging	Het
Exoc3l	A	G	8: 106,019,558 (GRCm39)	W404R	probably damaging	Het
Fbn1	C	A	2: 125,245,132 (GRCm39)	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,782,490 (GRCm39)	S241P	unknown	Het
Gm49380	T	A	9: 44,023,709 (GRCm39)	M180L	probably benign	Het
Hoxd1	A	T	2: 74,593,903 (GRCm39)	D153V	probably damaging	Het
Ifi207	C	T	1: 173,554,997 (GRCm39)	S895N	probably benign	Het
Igf1r	G	A	7: 67,823,026 (GRCm39)	V385M	probably damaging	Het
Ints9	C	T	14: 65,232,513 (GRCm39)	Q191*	probably null	Het
Ktn1	A	G	14: 47,952,097 (GRCm39)	E979G	probably benign	Het
Lama3	G	A	18: 12,605,238 (GRCm39)		probably null	Het
Lrtm2	C	T	6: 119,294,392 (GRCm39)	M246I	probably damaging	Het
Mdm1	T	C	10: 117,982,590 (GRCm39)	V75A	probably benign	Het
Mia3	T	C	1: 183,140,220 (GRCm39)	E165G	probably benign	Het
Mrps21	T	C	3: 95,770,128 (GRCm39)	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,362,155 (GRCm39)	I995S	probably damaging	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Myo16	G	A	8: 10,322,537 (GRCm39)	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,816,798 (GRCm39)	D134A	probably benign	Het
Obox1	G	T	7: 15,289,491 (GRCm39)	K93N	probably benign	Het
Or12d2	T	A	17: 37,624,816 (GRCm39)	H153L	possibly damaging	Het
Or2r3	A	T	6: 42,448,434 (GRCm39)	M226K	probably benign	Het
Or56a4	T	C	7: 104,806,289 (GRCm39)	Y200C	probably damaging	Het
Or5ar1	A	T	2: 85,672,096 (GRCm39)	V13D	probably benign	Het
Pkd2l1	T	C	19: 44,145,668 (GRCm39)	H185R	probably benign	Het
Ptpn18	A	G	1: 34,501,831 (GRCm39)	T48A	probably benign	Het
Ptprd	A	T	4: 75,978,058 (GRCm39)	Y583*	probably null	Het
Ptprk	G	A	10: 28,450,815 (GRCm39)	G992D	probably damaging	Het
Setdb2	A	G	14: 59,656,700 (GRCm39)	F206L	probably damaging	Het
Slain1	A	G	14: 103,923,150 (GRCm39)	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,139,086 (GRCm39)	V286E	possibly damaging	Het
Slco4a1	T	C	2: 180,115,919 (GRCm39)	V685A	probably benign	Het
Srp54c	T	A	12: 55,302,347 (GRCm39)	Y333N	probably damaging	Het
Srrm2	T	C	17: 24,039,091 (GRCm39)	S1912P	unknown	Het
St7l	A	G	3: 104,796,645 (GRCm39)	T253A	possibly damaging	Het
Styxl2	T	C	1: 165,928,584 (GRCm39)	K343E	probably benign	Het
Sun3	T	G	11: 8,981,445 (GRCm39)	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,965,561 (GRCm39)	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,370,781 (GRCm39)	S648R	probably damaging	Het
Tmem178	T	A	17: 81,252,185 (GRCm39)	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,689 (GRCm39)	G22W	probably damaging	Het
Top3a	C	T	11: 60,644,744 (GRCm39)	S320N	possibly damaging	Het
Treml1	C	A	17: 48,673,719 (GRCm39)	D243E	probably damaging	Het
Trim42	C	T	9: 97,244,998 (GRCm39)	V601M	probably damaging	Het
Ttn	A	G	2: 76,573,350 (GRCm39)	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 12,835,983 (GRCm39)	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,793,662 (GRCm39)	F2S	probably benign	Het
Xpc	A	G	6: 91,481,631 (GRCm39)	L230P	probably damaging	Het
Xpo4	A	G	14: 57,867,680 (GRCm39)	V189A	probably benign	Het
Zfhx3	A	G	8: 109,519,468 (GRCm39)	T197A	probably damaging	Het
Zswim1	A	G	2: 164,667,710 (GRCm39)	K321E	probably damaging	Het

Other mutations in Slc44a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Slc44a2	APN	9	21,257,231 (GRCm39)	missense	probably damaging	0.96
IGL01506:Slc44a2	APN	9	21,249,246 (GRCm39)	missense	probably benign	0.30
IGL01687:Slc44a2	APN	9	21,257,243 (GRCm39)	missense	probably benign	0.00
IGL01786:Slc44a2	APN	9	21,263,782 (GRCm39)	missense	probably damaging	1.00
IGL01795:Slc44a2	APN	9	21,256,645 (GRCm39)	missense	probably damaging	0.97
IGL02338:Slc44a2	APN	9	21,258,338 (GRCm39)	missense	probably damaging	1.00
IGL02701:Slc44a2	APN	9	21,259,247 (GRCm39)	missense	probably benign	0.01
IGL02820:Slc44a2	APN	9	21,254,273 (GRCm39)	missense	probably benign
IGL03087:Slc44a2	APN	9	21,258,061 (GRCm39)	missense	probably benign	0.00
IGL03153:Slc44a2	APN	9	21,254,496 (GRCm39)	missense	probably benign	0.44
IGL03233:Slc44a2	APN	9	21,259,918 (GRCm39)	missense	possibly damaging	0.95
freighted	UTSW	9	21,253,265 (GRCm39)	missense	probably null	0.08
Loaded	UTSW	9	21,259,445 (GRCm39)	critical splice donor site	probably null
R1177:Slc44a2	UTSW	9	21,259,879 (GRCm39)	missense	probably benign	0.00
R1367:Slc44a2	UTSW	9	21,254,322 (GRCm39)	missense	probably benign	0.00
R1474:Slc44a2	UTSW	9	21,264,990 (GRCm39)	missense	probably damaging	0.99
R2077:Slc44a2	UTSW	9	21,265,020 (GRCm39)	missense	probably damaging	1.00
R2432:Slc44a2	UTSW	9	21,256,130 (GRCm39)	missense	probably damaging	1.00
R3722:Slc44a2	UTSW	9	21,254,273 (GRCm39)	missense	possibly damaging	0.78
R3958:Slc44a2	UTSW	9	21,259,837 (GRCm39)	missense	probably damaging	0.96
R4557:Slc44a2	UTSW	9	21,258,079 (GRCm39)	missense	possibly damaging	0.93
R4641:Slc44a2	UTSW	9	21,258,178 (GRCm39)	missense	probably damaging	1.00
R4725:Slc44a2	UTSW	9	21,259,691 (GRCm39)	missense	probably damaging	1.00
R4859:Slc44a2	UTSW	9	21,259,441 (GRCm39)	missense	probably damaging	0.98
R6701:Slc44a2	UTSW	9	21,232,149 (GRCm39)	critical splice donor site	probably null
R7068:Slc44a2	UTSW	9	21,232,144 (GRCm39)	missense	probably benign	0.00
R7206:Slc44a2	UTSW	9	21,258,103 (GRCm39)	missense	probably damaging	1.00
R7233:Slc44a2	UTSW	9	21,259,445 (GRCm39)	critical splice donor site	probably null
R7287:Slc44a2	UTSW	9	21,253,752 (GRCm39)	missense	probably benign
R7329:Slc44a2	UTSW	9	21,254,048 (GRCm39)	missense	probably damaging	1.00
R7432:Slc44a2	UTSW	9	21,254,511 (GRCm39)	missense	probably benign	0.00
R7448:Slc44a2	UTSW	9	21,259,642 (GRCm39)	missense	possibly damaging	0.87
R7514:Slc44a2	UTSW	9	21,253,768 (GRCm39)	missense	possibly damaging	0.46
R7523:Slc44a2	UTSW	9	21,257,288 (GRCm39)	missense	probably null	0.81
R8167:Slc44a2	UTSW	9	21,258,068 (GRCm39)	missense	possibly damaging	0.67
R8211:Slc44a2	UTSW	9	21,259,434 (GRCm39)	missense	probably damaging	1.00
R8240:Slc44a2	UTSW	9	21,253,481 (GRCm39)	missense	probably benign
R8293:Slc44a2	UTSW	9	21,264,984 (GRCm39)	missense	probably damaging	1.00
R8294:Slc44a2	UTSW	9	21,259,643 (GRCm39)	missense	probably damaging	1.00
R8341:Slc44a2	UTSW	9	21,253,495 (GRCm39)	missense	probably benign	0.00
R8471:Slc44a2	UTSW	9	21,253,265 (GRCm39)	missense	probably null	0.08
R8732:Slc44a2	UTSW	9	21,259,882 (GRCm39)	missense	probably benign	0.01
R8892:Slc44a2	UTSW	9	21,253,153 (GRCm39)	splice site	probably benign
R9019:Slc44a2	UTSW	9	21,265,077 (GRCm39)	missense	probably damaging	0.99
R9149:Slc44a2	UTSW	9	21,253,305 (GRCm39)	missense	possibly damaging	0.67
R9318:Slc44a2	UTSW	9	21,253,268 (GRCm39)	missense	probably damaging	1.00
R9322:Slc44a2	UTSW	9	21,258,246 (GRCm39)	missense	probably damaging	1.00
R9449:Slc44a2	UTSW	9	21,258,333 (GRCm39)	missense
R9731:Slc44a2	UTSW	9	21,263,770 (GRCm39)	missense	possibly damaging	0.90
X0018:Slc44a2	UTSW	9	21,254,084 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTGGAAGTGGTCATCATCCTG -3'
(R):5'- TCCTGCAAGTTGTCTTTAGACC -3'

Sequencing Primer
(F):5'- TCTGCGCAAAAGGATATTGATCGC -3'
(R):5'- GTCTTTAGACCTCTAAATATTGCCAC -3'

Posted On

2019-10-07